Ellis Van Creveld Syndrome synonyms
What other names are the Ellis Van Creveld Syndrome known by? Synonyms and other terms with which Ellis Van Creveld Syndrome is known.
Ellis Van Creveld Syndrome, also known as chondroectodermal dysplasia, is a rare genetic disorder that primarily affects the development of bones and teeth. This condition is characterized by a combination of skeletal abnormalities, short stature, and various dental abnormalities. It is named after the physicians who first described it in 1940, Richard W.B. Ellis and Simon van Creveld.
Synonyms for Ellis Van Creveld Syndrome include:
- Chondroectodermal dysplasia
- Mesodermic dysplasia
- Chondroectodermal dysplasia with polydactyly
- Chondroectodermal dysplasia, Ellis Van Creveld type
- Chondroectodermal dysplasia, EVC type
- EvC syndrome
- EvC
- Chondroectodermal dysplasia, Ellis Van Creveld syndrome
Ellis Van Creveld Syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. The responsible gene mutations are typically found in the EVC or EVC2 genes, which play a role in the development and maintenance of bones and teeth.
Individuals with Ellis Van Creveld Syndrome often exhibit short stature, short limbs, and polydactyly (extra fingers or toes). They may also have dental abnormalities such as missing teeth, misshapen teeth, or small teeth. Additionally, affected individuals may experience heart defects, respiratory problems, and intellectual disability to varying degrees.
Early diagnosis of Ellis Van Creveld Syndrome is crucial for appropriate medical management and support. Treatment primarily focuses on addressing the specific symptoms and complications associated with the condition. This may involve orthopedic interventions, dental care, and close monitoring of heart and respiratory health.
